Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial

Introduction: Genetic testing for hypertrophic cardiomyopathy (HCM) is considered a key aspect of management. Communication of genetic test results to the proband and their family members, can be a barrier to effective uptake. We hypothesized that a communication aid would facilitate effective communication, and sought to evaluate knowledge and communication of HCM risk to at-risk relatives. Methods: This was a prospective randomized controlled trial. Consecutive HCM patients attending a specialized clinic, who agreed to participate, were randomized to the intervention or current clinical practice. The intervention consisted of a genetic counselor-led appointment, separate to their clinical cardiology review, and guided by a communication booklet which could be written in and taken home. Current clinical practice was defined as the return of the genetic result by a genetic counselor and cardiologist, often as part of a clinical cardiology review. The primary outcome was the ability and confidence of the individual to communicate genetic results to at-risk relatives. Results: The a priori outcome of improved communication amongst HCM families did not show statistically significant differences between the control and intervention group, though the majority of probands in the intervention group achieved fair communication (n=13/22) and had higher genetic knowledge scores than those in the control group (7 +/- 3 versus 6 +/- 3). A total of 29% of at-risk relatives were not informed of a genetic result in their family. Conclusion: Communication amongst HCM families remains challenging, with nearly a third of at-risk relatives not informed of a genetic result. We show a significant gap in the current approach to supporting family communication about genetics.

Electrocardiographic Predictors of Mortality: Data from a Primary Care Tele-Electrocardiography Cohort of Brazilian Patients

Computerized electrocardiography (ECG) has been widely used and allows linkage to electronic medical records. The present study describes the development and clinical applications of an electronic cohort derived from a digital ECG database obtained by the Telehealth Network of Minas Gerais, Brazil, for the period 2010–2017, linked to the mortality data from the national information system, the Clinical Outcomes in Digital Electrocardiography (CODE) dataset. From 2,470,424 ECGs, 1,773,689 patients were identified. A total of 1,666,778 (94%) underwent a valid ECG recording for the period 2010 to 2017, with 1,558,421 patients over 16 years old; 40.2% were men, with a mean age of 51.7 [SD 17.6] years. During a mean follow-up of 3.7 years, the mortality rate was 3.3%. ECG abnormalities assessed were: atrial fibrillation (AF), right bundle branch block (RBBB), left bundle branch block (LBBB), atrioventricular block (AVB), and ventricular pre-excitation. Most ECG abnormalities (AF: Hazard ratio [HR] 2.10; 95% CI 2.03–2.17; RBBB: HR 1.32; 95%CI 1.27–1.36; LBBB: HR 1.69; 95% CI 1.62–1.76; first degree AVB: Relative survival [RS]: 0.76; 95% CI0.71–0.81; 2:1 AVB: RS 0.21 95% CI0.09–0.52; and RS 0.36; third degree AVB: 95% CI 0.26–0.49) were predictors of overall mortality, except for ventricular pre-excitation (HR 1.41; 95% CI 0.56–3.57) and Mobitz I AVB (RS 0.65; 95% CI 0.34–1.24). In conclusion, a large ECG database established by a telehealth network can be a useful tool for facilitating new advances in the fields of digital electrocardiography, clinical cardiology and cardiovascular epidemiology.

Constraints in Clinical Cardiology and Personalized Medicine: Interrelated Concepts in Clinical Cardiology

Systems biology is established as an integrative computational analysis methodology with practical and theoretical applications in clinical cardiology. The integration of genetic and molecular components of a disease produces interacting networks, modules and phenotypes with clinical applications in complex cardiovascular entities. With the holistic principle of systems biology, some of the features of complexity and natural progression of cardiac diseases are approached and explained. Two important interrelated holistic concepts of systems biology are described; the emerging field of personalized medicine and the constraint-based thinking with downward causation. Constraints in cardiovascular diseases embrace three scientific fields related to clinical cardiology: biological and medical constraints; constraints due to limitations of current technology; and constraints of general resources for better medical coverage. Systems healthcare and personalized medicine are connected to the related scientific fields of: ethics and legal status; data integration; taxonomic revisions; policy decisions; and organization of human genomic data.